Search Criteria: Research Area is "Mouse/Human Gene Homologs: GM2-gangliosidosis type I, Tay-Sachs disease"
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 002367 | B6;129S4-Hexatm1Rlp/J | Repository-Cryopreserved |
| Mice homozygous for the Hexatm1Rlp targeted mutation are viable and fertile. GM2 ganglioside accumulates in the central nervous system of homozygous mice and the neuropathology is similar to that of Tay-Sachs patients with the exception that not all neurons are affected in the mouse as in human beings. No neuronal storage was found in the cerebellum, the anterior horn of the spinal cord or the spinal ganglia. Only minor storage was present in the posterior horn of the spinal cord. There are no abnormal neurologic signs in homozygous mice by 5 months of age. | ||
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